PALB2変異陽性乳がん・膵臓がん - MGenReviews

PALB2変異陽性乳がん・膵臓がん

腫瘍性疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)	PALB2	Pathogenic	16	23647131	23647132	T	TCG	criteria provided, single submitter	ClinGen:CA7963765
Deletion	NM_024675.4(PALB2):c.232del (p.Val78fs)	PALB2	Pathogenic	16	23647635	23647635	AC	A	criteria provided, single submitter	ClinGen:CA658658448
single nucleotide variant	NM_024675.4(PALB2):c.48+1G>A	PALB2	Likely pathogenic	16	23652430	23652430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395140998
Deletion	NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)	PALB2	Pathogenic/Likely pathogenic	16	23641012	23641019	GATTTTCTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658404
Deletion	NM_024675.4(PALB2):c.1485del (p.Asp496fs)	PALB2	Pathogenic/Likely pathogenic	16	23646382	23646382	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658422
single nucleotide variant	NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647001	23647001	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395135804
Deletion	NM_024675.4(PALB2):c.620del (p.Pro207fs)	PALB2	Pathogenic/Likely pathogenic	16	23647247	23647247	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658443
Deletion	NM_024675.4(PALB2):c.444del (p.Lys149fs)	PALB2	Pathogenic/Likely pathogenic	16	23647423	23647423	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658447
single nucleotide variant	NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)	PALB2	Pathogenic/Likely pathogenic	16	23632729	23632729	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395142961
Duplication	NM_024675.4(PALB2):c.1546dup (p.Arg516fs)	PALB2	Pathogenic	16	23646320	23646321	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683909

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